| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6018498C>A | CA383498693 | VWF | c.4920G>T (p.Glu1640Asp) n.421-24564G>T | |
| 12 | g.6018498C>G | CA383498694 | VWF | c.4920G>C (p.Glu1640Asp) n.421-24564G>C | |
| 12 | g.6018498C>T | CA478494022 | VWF | c.4920G>A (p.Glu1640=) n.421-24564G>A | |
| 12 | g.6018499T>A | CA383498695 | VWF | c.4919A>T (p.Glu1640Val) n.421-24565A>T | |
| 12 | g.6018499T>C | CA383498696 | VWF | c.4919A>G (p.Glu1640Gly) n.421-24565A>G | |
| 12 | g.6018499T>G | CA383498697 | VWF | c.4919A>C (p.Glu1640Ala) n.421-24565A>C | |
| 12 | g.6018500C>A | CA383498698 | VWF | c.4918G>T (p.Glu1640Ter) n.421-24566G>T | |
| 12 | g.6018500C>G | CA383498699 | VWF | c.4918G>C (p.Glu1640Gln) n.421-24566G>C | |
| 12 | g.6018500C>T | CA383498700 | VWF | c.4918G>A (p.Glu1640Lys) n.421-24566G>A | |
| 12 | g.6018501C>A | CA478494023 | VWF | c.4917G>T (p.Leu1639=) n.421-24567G>T | |
| 12 | g.6018501C= | CA2013872546 | VWF | c.4917G= (p.Leu1639=) n.421-24567G= | |
| 12 | g.6018501C>G | CA478494024 | VWF | c.4917G>C (p.Leu1639=) n.421-24567G>C | |
| 12 | g.6018501C>T | CA6402440 | VWF | c.4917G>A (p.Leu1639=) n.421-24567G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018502A= | CA2013872547 | VWF | c.4916T= (p.Leu1639=) n.421-24568T= | |
| 12 | g.6018502A>C | CA383498701 | VWF | c.4916T>G (p.Leu1639Arg) n.421-24568T>G | |
| 12 | g.6018502A>G | CA228678 | VWF | c.4916T>C (p.Leu1639Pro) n.421-24568T>C | ClinVar dbSNP |
| 12 | g.6018502A>T | CA383498702 | VWF | c.4916T>A (p.Leu1639Gln) n.421-24568T>A | |
| 12 | g.6018503G>A | CA478494025 | VWF | c.4915C>T (p.Leu1639=) n.421-24569C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018503G>C | CA383498703 | VWF | c.4915C>G (p.Leu1639Val) n.421-24569C>G | |
| 12 | g.6018503G= | CA2013872548 | VWF | c.4915C= (p.Leu1639=) n.421-24569C= | |
| 12 | g.6018503G>T | CA383498704 | VWF | c.4915C>A (p.Leu1639Met) n.421-24569C>A | |
| 12 | g.6018504C>A | CA383498706 | VWF | c.4914G>T (p.Glu1638Asp) n.421-24570G>T | gnomAD v4 |
| 12 | g.6018504C>G | CA383498705 | VWF | c.4914G>C (p.Glu1638Asp) n.421-24570G>C | gnomAD v4 |
| 12 | g.6018504C>T | CA478494026 | VWF | c.4914G>A (p.Glu1638=) n.421-24570G>A | |
| 12 | g.6018505T>A | CA383498707 | VWF | c.4913A>T (p.Glu1638Val) n.421-24571A>T | |
| 12 | g.6018505T>C | CA383498708 | VWF | c.4913A>G (p.Glu1638Gly) n.421-24571A>G | |
| 12 | g.6018505T>G | CA383498709 | VWF | c.4913A>C (p.Glu1638Ala) n.421-24571A>C | |
| 12 | g.6018505_6018526delinsCAAT | CA2695196767 | VWF | c.4892_4913delinsATTG (p.Gly1631_Glu1638delinsAspTrp) n.421-24592_421-24571delinsATTG | |
| 12 | g.6018506C>A | CA383498710 | VWF | c.4912G>T (p.Glu1638Ter) n.421-24572G>T | |
| 12 | g.6018506C= | CA2013872549 | VWF | c.4912G= (p.Glu1638=) n.421-24572G= | |
| 12 | g.6018506C>G | CA232297755 | VWF | c.4912G>C (p.Glu1638Gln) n.421-24572G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018506C>T | CA228676 | VWF | c.4912G>A (p.Glu1638Lys) n.421-24572G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.6018507C>A | CA383498712 | VWF | c.4911G>T (p.Gln1637His) n.421-24573G>T | |
| 12 | g.6018507C>G | CA383498711 | VWF | c.4911G>C (p.Gln1637His) n.421-24573G>C | |
| 12 | g.6018507C>T | CA478494027 | VWF | c.4911G>A (p.Gln1637=) n.421-24573G>A | |
| 12 | g.6018508T>A | CA383498713 | VWF | c.4910A>T (p.Gln1637Leu) n.421-24574A>T | |
| 12 | g.6018508T>C | CA383498714 | VWF | c.4910A>G (p.Gln1637Arg) n.421-24574A>G | |
| 12 | g.6018508T>G | CA383498715 | VWF | c.4910A>C (p.Gln1637Pro) n.421-24574A>C | gnomAD v4 |
| 12 | g.6018509G>A | CA383498716 | VWF | c.4909C>T (p.Gln1637Ter) n.421-24575C>T | |
| 12 | g.6018509G>C | CA383498717 | VWF | c.4909C>G (p.Gln1637Glu) n.421-24575C>G | |
| 12 | g.6018509G>T | CA383498718 | VWF | c.4909C>A (p.Gln1637Lys) n.421-24575C>A | gnomAD v4 |
| 12 | g.6018510C>A | CA478494028 | VWF | c.4908G>T (p.Val1636=) n.421-24576G>T | |
| 12 | g.6018510C>G | CA478494029 | VWF | c.4908G>C (p.Val1636=) n.421-24576G>C | |
| 12 | g.6018510C>T | CA478494030 | VWF | c.4908G>A (p.Val1636=) n.421-24576G>A | |
| 12 | g.6018511A= | CA2013872550 | VWF | c.4907T= (p.Val1636=) n.421-24577T= | |
| 12 | g.6018511A>C | CA383498719 | VWF | c.4907T>G (p.Val1636Gly) n.421-24577T>G | |
| 12 | g.6018511A>G | CA383498721 | VWF | c.4907T>C (p.Val1636Ala) n.421-24577T>C | gnomAD v4 |
| 12 | g.6018511A>T | CA383498720 | VWF | c.4907T>A (p.Val1636Glu) n.421-24577T>A | |
| 12 | g.6018512C>A | CA383498722 | VWF | c.4906G>T (p.Val1636Leu) n.421-24578G>T | |
| 12 | g.6018512C= | CA2013872551 | VWF | c.4906G= (p.Val1636=) n.421-24578G= |